ClinVar for MedGen (Select 332481) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064545	NM_001039958.2(MESP2):c.157C>T (p.Gln53Ter)	MESP2 (Q53*)	Single nucleotide variant (nonsense)	Spondylocostal dysostosis 2, autosomal recessive	GUncertain significance
Select item 2627573	NM_001039958.2(MESP2):c.49del (p.Ile17fs)	MESP2 (I17fs)	Deletion (frameshift variant)	Spondylocostal dysostosis 2, autosomal recessive	GPathogenic
Select item 2506245	NM_001039958.2(MESP2):c.83G>A (p.Trp28Ter)	MESP2 (W28*)	Single nucleotide variant (nonsense)	Spondylocostal dysostosis 2, autosomal recessive	GPathogenic
Select item 2433739	NM_001039958.2(MESP2):c.220G>A (p.Ala74Thr)	MESP2 (A74T)	Single nucleotide variant (missense variant)	Spondylocostal dysostosis 2, autosomal recessive	GUncertain significance
Select item 1157167	NM_001039958.2(MESP2):c.207G>T (p.Thr69=)	MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1148593	NM_001039958.2(MESP2):c.18T>A (p.Pro6=)	MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1142086	NM_001039958.2(MESP2):c.669G>C (p.Pro223=)	MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1139157	NM_001039958.2(MESP2):c.1122C>A (p.Gly374=)	MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1121604	NM_001039958.2(MESP2):c.966T>G (p.Ala322=)	MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1093043	NM_001039958.2(MESP2):c.408G>T (p.Ser136=)	MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1063360	NM_001039958.2(MESP2):c.637G>A (p.Ala213Thr)	MESP2 (A213T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1028982	NM_001039958.2(MESP2):c.787C>G (p.Gln263Glu)	MESP2 (Q263E)	Single nucleotide variant (missense variant)	Spondylocostal dysostosis 2, autosomal recessive +1 more	GUncertain significance
Select item 990968	NM_001039958.2(MESP2):c.461G>C (p.Gly154Ala)	MESP2 (G154A)	Single nucleotide variant (missense variant)	Spondylocostal dysostosis 2, autosomal recessive	GUncertain significance
Select item 990967	NM_001039958.2(MESP2):c.320T>C (p.Phe107Ser)	LOC130057891, MESP2 (F107S)	Single nucleotide variant (missense variant)	Spondylocostal dysostosis 2, autosomal recessive	GUncertain significance
Select item 990314	NM_001039958.2(MESP2):c.278G>C (p.Arg93Pro)	LOC130057891, MESP2 (R93P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 990313	NM_001039958.2(MESP2):c.255C>G (p.Ser85Arg)	LOC130057891, MESP2 (S85R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 990312	NM_001039958.2(MESP2):c.248G>C (p.Arg83Pro)	LOC130057891, MESP2 (R83P)	Single nucleotide variant (missense variant)	Spondylocostal dysostosis 2, autosomal recessive	GUncertain significance
Select item 990311	NM_001039958.2(MESP2):c.245A>G (p.Gln82Arg)	LOC130057891, MESP2 (Q82R)	Single nucleotide variant (missense variant)	Spondylocostal dysostosis 2, autosomal recessive	GUncertain significance
Select item 990310	NM_001039958.2(MESP2):c.196G>A (p.Ala66Thr)	MESP2 (A66T)	Single nucleotide variant (missense variant)	Spondylocostal dysostosis 2, autosomal recessive	GUncertain significance
Select item 990309	NM_001039958.2(MESP2):c.183C>T (p.Ser61=)	MESP2	Single nucleotide variant (synonymous variant)	MESP2-related disorder +1 more	GLikely benign
Select item 990308	NM_001039958.2(MESP2):c.170C>G (p.Pro57Arg)	MESP2 (P57R)	Single nucleotide variant (missense variant)	Spondylocostal dysostosis 2, autosomal recessive	GUncertain significance
Select item 887589	NM_001039958.2(MESP2):c.*318G>A	MESP2	Single nucleotide variant (3 prime UTR variant)	Spondylocostal dysostosis 2, autosomal recessive	GUncertain significance
Select item 887588	NM_001039958.2(MESP2):c.*229T>C	MESP2	Single nucleotide variant (3 prime UTR variant)	Spondylocostal dysostosis 2, autosomal recessive	GUncertain significance
Select item 887534	NM_001039958.2(MESP2):c.218G>T (p.Arg73Leu)	MESP2 (R73L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 887409	NM_001039958.2(MESP2):c.*169G>A	MESP2	Single nucleotide variant (3 prime UTR variant)	Spondylocostal dysostosis 2, autosomal recessive	GUncertain significance
Select item 887408	NM_001039958.2(MESP2):c.*118G>A	MESP2	Single nucleotide variant (3 prime UTR variant)	Spondylocostal dysostosis 2, autosomal recessive	GUncertain significance
Select item 887407	NM_001039958.2(MESP2):c.*50G>A	MESP2	Single nucleotide variant (3 prime UTR variant)	Spondylocostal dysostosis 2, autosomal recessive	GUncertain significance
Select item 887406	NM_001039958.2(MESP2):c.*10G>A	MESP2	Single nucleotide variant (3 prime UTR variant)	Spondylocostal dysostosis 2, autosomal recessive	GUncertain significance
Select item 887405	NM_001039958.2(MESP2):c.1073C>T (p.Pro358Leu)	MESP2 (P358L)	Single nucleotide variant (missense variant)	Spondylocostal dysostosis 2, autosomal recessive	GUncertain significance
Select item 886402	NM_001039958.2(MESP2):c.1063G>A (p.Asp355Asn)	MESP2 (D355N)	Single nucleotide variant (missense variant)	Spondylocostal dysostosis 2, autosomal recessive +1 more	GUncertain significance
Select item 886401	NM_001039958.2(MESP2):c.1017C>G (p.Pro339=)	MESP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 886400	NM_001039958.2(MESP2):c.682G>A (p.Gly228Arg)	MESP2 (G228R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 845537	NM_001039958.2(MESP2):c.517G>A (p.Ala173Thr)	MESP2 (A173T)	Single nucleotide variant (missense variant)	Spondylocostal dysostosis 2, autosomal recessive +2 more	GConflicting classifications of pathogenicity
Select item 796424	NM_001039958.2(MESP2):c.237G>C (p.Ala79=)	MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 794006	NM_001039958.2(MESP2):c.237G>T (p.Ala79=)	MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 785508	NM_001039958.2(MESP2):c.355C>T (p.Leu119=)	LOC130057891, MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 763930	NM_001039958.2(MESP2):c.693C>T (p.Ala231=)	MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 763859	NM_001039958.2(MESP2):c.793A>G (p.Thr265Ala)	MESP2 (T265A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 761879	NM_001039958.2(MESP2):c.378C>G (p.Arg126=)	LOC130057891, MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 751329	NM_001039958.2(MESP2):c.189C>G (p.Ala63=)	MESP2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 742045	NM_001039958.2(MESP2):c.357G>C (p.Leu119=)	LOC130057891, MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 731636	NM_001039958.2(MESP2):c.1017C>T (p.Pro339=)	MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 731465	NM_001039958.2(MESP2):c.67G>A (p.Gly23Ser)	MESP2 (G23S)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 731367	NM_001039958.2(MESP2):c.498C>A (p.Pro166=)	MESP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 730015	NM_001039958.2(MESP2):c.859C>T (p.Pro287Ser)	MESP2 (P287S)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 714558	NM_001039958.2(MESP2):c.168T>G (p.Pro56=)	MESP2	Single nucleotide variant (synonymous variant)	Spondylocostal dysostosis 2, autosomal recessive +1 more	GConflicting classifications of pathogenicity
Select item 632245	NM_001039958.2(MESP2):c.531_550del (p.Glu178fs)	MESP2 (E178fs)	Deletion (frameshift variant)	Spondylocostal dysostosis 2, autosomal recessive	GUncertain significance
Select item 557590	NM_001039958.2(MESP2):c.249_256dup (p.Ala86fs)	LOC130057891, MESP2 (A86fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 557578	NM_001039958.2(MESP2):c.547_556del (p.Gly183Argfs)	MESP2 (G183fs)	Deletion (frameshift variant)	Spondylocostal dysostosis 2, autosomal recessive	GUncertain significance
Select item 557494	NM_001039958.2(MESP2):c.585_608del (p.180_181QG[9])	MESP2	Deletion (inframe_deletion)	Spondylocostal dysostosis 2, autosomal recessive	GUncertain significance
Select item 557438	NM_001039958.2(MESP2):c.948_949del (p.Cys317fs)	MESP2 (C317fs)	Deletion (frameshift variant)	Spondylocostal dysostosis 2, autosomal recessive	GUncertain significance
Select item 557334	NM_001039958.2(MESP2):c.250C>T (p.Gln84Ter)	LOC130057891, MESP2 (Q84*)	Single nucleotide variant (nonsense)	Spondylocostal dysostosis 2, autosomal recessive	GLikely pathogenic
Select item 557032	NM_001039958.2(MESP2):c.343_344dup (p.Gly116fs)	LOC130057891, MESP2 (G116fs)	Duplication (frameshift variant)	Spondylocostal dysostosis 2, autosomal recessive	GLikely pathogenic
Select item 556996	NM_001039958.2(MESP2):c.586C>T (p.Gln196Ter)	MESP2 (Q196*)	Single nucleotide variant (nonsense)	Spondylocostal dysostosis 2, autosomal recessive	GLikely pathogenic
Select item 556597	NM_001039958.2(MESP2):c.718del (p.Val240fs)	MESP2 (V240fs)	Deletion (frameshift variant)	Spondylocostal dysostosis 2, autosomal recessive +1 more	GUncertain significance
Select item 556463	NM_001039958.2(MESP2):c.1017dup (p.Gly340fs)	MESP2 (G340fs)	Duplication (frameshift variant)	Spondylocostal dysostosis 2, autosomal recessive	GUncertain significance
Select item 556328	NM_001039958.2(MESP2):c.997A>T (p.Arg333Ter)	MESP2 (R333*)	Single nucleotide variant (nonsense)	Spondylocostal dysostosis 2, autosomal recessive	GUncertain significance
Select item 556240	NM_001039958.2(MESP2):c.640_643del (p.Val214fs)	MESP2 (V214fs)	Deletion (frameshift variant)	not provided +1 more	GUncertain significance
Select item 555826	NM_001039958.2(MESP2):c.116C>A (p.Ser39Ter)	MESP2 (S39*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 555370	NM_001039958.2(MESP2):c.258_261del (p.Glu88fs)	LOC130057891, MESP2 (E88fs)	Deletion (frameshift variant)	Spondylocostal dysostosis 2, autosomal recessive +1 more	GPathogenic/Likely pathogenic
Select item 554878	NM_001039958.2(MESP2):c.11C>A (p.Ser4Ter)	MESP2 (S4*)	Single nucleotide variant (nonsense)	Spondylocostal dysostosis 2, autosomal recessive +1 more	GPathogenic/Likely pathogenic
Select item 554632	NM_001039958.2(MESP2):c.1151G>A (p.Trp384Ter)	MESP2 (W384*)	Single nucleotide variant (nonsense)	Spondylocostal dysostosis 2, autosomal recessive	GUncertain significance
Select item 554365	NM_001039958.2(MESP2):c.737G>A (p.Trp246Ter)	MESP2 (W246*)	Single nucleotide variant (nonsense)	Spondylocostal dysostosis 2, autosomal recessive	GLikely pathogenic
Select item 554295	NM_001039958.2(MESP2):c.600_605del (p.180_181QG[12])	MESP2	Deletion (inframe_deletion)	Spondylocostal dysostosis 2, autosomal recessive	GUncertain significance
Select item 553854	NM_001039958.2(MESP2):c.1100_1101insT (p.Ser368fs)	MESP2 (S368fs)	Insertion (frameshift variant)	Spondylocostal dysostosis 2, autosomal recessive	GUncertain significance
Select item 553672	NM_001039958.2(MESP2):c.546_557del (p.180_181QG[11])	MESP2	Deletion (inframe_deletion)	Spondylocostal dysostosis 2, autosomal recessive	GUncertain significance
Select item 553409	NM_001039958.2(MESP2):c.1073_1074insAGAGGACCAGAGGACC (p.Gly359fs)	MESP2 (G359fs)	Insertion (frameshift variant)	Spondylocostal dysostosis 2, autosomal recessive	GUncertain significance
Select item 552988	NM_001039958.2(MESP2):c.921C>G (p.Tyr307Ter)	MESP2 (Y307*)	Single nucleotide variant (nonsense)	Spondylocostal dysostosis 2, autosomal recessive +1 more	GUncertain significance
Select item 552837	NM_001039958.2(MESP2):c.558_593del (p.180_181QG[7])	MESP2	Deletion (inframe_deletion)	Spondylocostal dysostosis 2, autosomal recessive	GUncertain significance
Select item 552673	NM_001039958.2(MESP2):c.918_919del (p.Tyr307fs)	MESP2 (Y307fs)	Microsatellite (frameshift variant)	Spondylocostal dysostosis 2, autosomal recessive	GUncertain significance
Select item 552595	NM_001039958.2(MESP2):c.48G>A (p.Trp16Ter)	MESP2 (W16*)	Single nucleotide variant (nonsense)	Spondylocostal dysostosis 2, autosomal recessive	GLikely pathogenic
Select item 551651	NM_001039958.2(MESP2):c.349C>T (p.Gln117Ter)	LOC130057891, MESP2 (Q117*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 551393	NM_001039958.2(MESP2):c.801_806del (p.Asp268_Ala269del)	MESP2	Deletion (inframe_deletion)	Spondylocostal dysostosis 2, autosomal recessive	GUncertain significance
Select item 551110	NM_001039958.2(MESP2):c.229G>T (p.Gly77Ter)	MESP2 (G77*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 550958	NM_001039958.2(MESP2):c.1155AGA[1] (p.Glu386del)	MESP2 (E386del)	Microsatellite (inframe_deletion)	Spondylocostal dysostosis 2, autosomal recessive	GUncertain significance
Select item 550540	NM_001039958.2(MESP2):c.1144G>T (p.Glu382Ter)	MESP2 (E382*)	Single nucleotide variant (nonsense)	Spondylocostal dysostosis 2, autosomal recessive	GUncertain significance
Select item 549989	NM_001039958.2(MESP2):c.192_203dup (p.Glu65_Ala68dup)	MESP2	Duplication (inframe_insertion)	Spondylocostal dysostosis 2, autosomal recessive +1 more	GUncertain significance
Select item 317401	NM_001039958.2(MESP2):c.*326C>T	MESP2	Single nucleotide variant (3 prime UTR variant)	Spondylocostal dysostosis 2, autosomal recessive	GLikely benign
Select item 317400	NM_001039958.2(MESP2):c.*210C>G	MESP2	Single nucleotide variant (3 prime UTR variant)	Spondylocostal dysostosis 2, autosomal recessive	GUncertain significance
Select item 317399	NM_001039958.2(MESP2):c.*182C>T	MESP2	Single nucleotide variant (3 prime UTR variant)	Spondylocostal dysostosis 2, autosomal recessive	GUncertain significance
Select item 317397	NM_001039958.2(MESP2):c.*107T>C	MESP2	Single nucleotide variant (3 prime UTR variant)	Spondylocostal dysostosis 2, autosomal recessive	GUncertain significance
Select item 317396	NM_001039958.2(MESP2):c.*101G>C	MESP2	Single nucleotide variant (3 prime UTR variant)	Spondylocostal dysostosis 2, autosomal recessive	GUncertain significance
Select item 317395	NM_001039958.2(MESP2):c.1080C>T (p.Ala360=)	MESP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 317394	NM_001039958.2(MESP2):c.791G>A (p.Gly264Glu)	MESP2 (G264E)	Single nucleotide variant (missense variant)	Spondylocostal dysostosis 2, autosomal recessive	GUncertain significance
Select item 317393	NM_001039958.2(MESP2):c.717G>C (p.Gly239=)	MESP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 317392	NM_001039958.2(MESP2):c.602G>A (p.Gly201Glu)	MESP2 (G201E)	Single nucleotide variant (missense variant)	Spondylocostal dysostosis 2, autosomal recessive	GUncertain significance
Select item 317391	NM_001039958.2(MESP2):c.597A>G (p.Gly199=)	MESP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 317390	NM_001039958.2(MESP2):c.585A>G (p.Gly195=)	MESP2	Single nucleotide variant (synonymous variant)	Spondylocostal dysostosis 2, autosomal recessive +1 more	GConflicting classifications of pathogenicity
Select item 317389	NM_001039958.2(MESP2):c.573G>A (p.Gly191=)	MESP2	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 317388	NM_001039958.2(MESP2):c.561G>A (p.Gly187=)	MESP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 317387	NM_001039958.2(MESP2):c.556C>G (p.Gln186Glu)	MESP2 (Q186E)	Single nucleotide variant (missense variant)	Spondylocostal dysostosis 2, autosomal recessive	GUncertain significance
Select item 317386	NM_001039958.2(MESP2):c.554G>C (p.Gly185Ala)	MESP2 (G185A)	Single nucleotide variant (missense variant)	Spondylocostal dysostosis 2, autosomal recessive	GUncertain significance
Select item 317385	NM_001039958.2(MESP2):c.185G>A (p.Arg62Gln)	MESP2 (R62Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 284850	NM_001039958.2(MESP2):c.306C>A (p.His102Gln)	MESP2, LOC130057891 (H102Q)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 281201	NM_001039958.2(MESP2):c.534GGGGCAGGGGCAAGGGCAGGGGCA[1] (p.180QG[9])	MESP2	Microsatellite (inframe_deletion)	not specified +1 more	GBenign
Select item 281200	NM_001039958.2(MESP2):c.552GGGGCA[1] (p.180QG[11])	MESP2	Microsatellite (inframe_deletion)	Spondylocostal dysostosis +2 more	GBenign/Likely benign
Select item 257250	NM_001039958.2(MESP2):c.957G>A (p.Ser319=)	MESP2	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 257249	NM_001039958.2(MESP2):c.908T>C (p.Leu303Pro)	MESP2 (L303P)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 257248	NM_001039958.2(MESP2):c.885G>C (p.Thr295=)	MESP2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 257247	NM_001039958.2(MESP2):c.671C>T (p.Ser224Phe)	MESP2 (S224F)	Single nucleotide variant (missense variant)	Spondylocostal dysostosis 2, autosomal recessive +2 more	GBenign

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